Canonical Allele Identifier: CA2695232466

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774162del , CM000685.2:g.31774162del	GRCh38
NC_000023.10:g.31792279del , CM000685.1:g.31792279del	GRCh37
NC_000023.9:g.31702200del	NCBI36
NG_012232.1:g.1570449del , LRG_199:g.1570449del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2187del	ENSP00000350765.3:p.Gln729HisfsTer13
ENST00000682238.1:c.-40del	ENSP00000508124.1:n.-40del
ENST00000683117.1:n.1002del
ENST00000683450.1:n.924del
ENST00000683851.1:n.1002del
ENST00000683957.1:n.833del
ENST00000684130.1:c.-40del	ENSP00000508037.1:n.-40del
ENST00000357033.9:c.7341del MANE Select	ENSP00000354923.3:p.Gln2447HisfsTer13
ENST00000619831.5:c.3309del	ENSP00000479270.2:p.Gln1103HisfsTer13
ENST00000620040.5:c.-40del	ENSP00000478150.2:n.-40del
ENST00000680961.1:c.-40del	ENSP00000506386.1:n.-40del
ENST00000681646.1:n.1002del
ENST00000681839.1:c.330del	ENSP00000505228.1:p.Gln110HisfsTer13
ENST00000357033.8:c.7341del	ENSP00000354923.3:p.Gln2447HisfsTer13
ENST00000358062.6:c.429del	ENSP00000350765.2:p.Gln143HisfsTer13
ENST00000359836.5:c.-40del	ENSP00000352894.1:n.-40del
ENST00000378677.6:c.7329del	ENSP00000367948.2:p.Gln2443HisfsTer13
ENST00000378707.7:c.-40del	ENSP00000367979.3:n.-40del
ENST00000471779.1:c.98del	ENSP00000417075.1:n.98del
ENST00000474231.5:c.-40del	ENSP00000417123.1:n.-40del
ENST00000541735.5:c.-40del	ENSP00000444119.1:n.-40del
ENST00000619831.4:c.7326del	ENSP00000479270.1:p.Gln2442HisfsTer13
ENST00000620040.4:c.7338del	ENSP00000478150.1:p.Gln2446HisfsTer13
NM_000109.3:c.7317del	NP_000100.2:p.Gln2439HisfsTer13
NM_004006.2:c.7341del , LRG_199t1:c.7341del	NP_003997.1:p.Gln2447HisfsTer13
NM_004009.3:c.7329del	NP_004000.1:p.Gln2443HisfsTer13
NM_004010.3:c.6972del	NP_004001.1:p.Gln2324HisfsTer13
NM_004011.3:c.3318del	NP_004002.2:p.Gln1106HisfsTer13
NM_004012.3:c.3309del	NP_004003.1:p.Gln1103HisfsTer13
NM_004013.2:c.-40del	NP_004004.1:n.-40del
NM_004020.3:c.-40del	NP_004011.2:n.-40del
NM_004021.2:c.-40del	NP_004012.1:n.-40del
NM_004022.2:c.-40del	NP_004013.1:n.-40del
NM_004023.2:c.-40del	NP_004014.1:n.-40del
XM_006724468.2:c.7341del	XP_006724531.1:p.Gln2447HisfsTer13
XM_006724469.2:c.7317del	XP_006724532.1:p.Gln2439HisfsTer13
XM_006724470.2:c.7341del	XP_006724533.1:p.Gln2447HisfsTer13
XM_006724471.2:c.7341del	XP_006724534.1:p.Gln2447HisfsTer13
XM_006724472.2:c.7212del	XP_006724535.1:p.Gln2404HisfsTer13
XM_006724473.2:c.7203del	XP_006724536.1:p.Gln2401HisfsTer13
XM_006724474.2:c.7341del	XP_006724537.1:p.Gln2447HisfsTer13
XM_006724475.2:c.7341del	XP_006724538.1:p.Gln2447HisfsTer13
XM_011545467.1:c.7218del	XP_011543769.1:p.Gln2406HisfsTer13
XM_011545468.1:c.7341del	XP_011543770.1:p.Gln2447HisfsTer13
XM_006724469.3:c.7317del	XP_006724532.1:p.Gln2439HisfsTer13
XM_006724470.3:c.7341del	XP_006724533.1:p.Gln2447HisfsTer13
XM_006724474.3:c.7341del	XP_006724537.1:p.Gln2447HisfsTer13
XM_011545468.2:c.7341del	XP_011543770.1:p.Gln2447HisfsTer13
XM_017029328.1:c.7341del	XP_016884817.1:p.Gln2447HisfsTer13
XM_017029331.1:c.1515del	XP_016884820.1:p.Gln505HisfsTer13
NM_000109.4:c.7317del	NP_000100.3:p.Gln2439HisfsTer13
NM_004006.3:c.7341del MANE Select	NP_003997.2:p.Gln2447HisfsTer13
NM_004011.4:c.3318del	NP_004002.3:p.Gln1106HisfsTer13
NM_004012.4:c.3309del	NP_004003.2:p.Gln1103HisfsTer13
NM_004021.3:c.-40del	NP_004012.2:n.-40del
NM_004023.3:c.-40del	NP_004014.2:n.-40del
NM_004013.3:c.-40del	NP_004004.2:n.-40del
NM_004020.4:c.-40del	NP_004011.3:n.-40del
NM_004022.3:c.-40del	NP_004013.2:n.-40del